Severe early-onset obesity
Gene: BBS10EnsemblGeneIds (GRCh38): ENSG00000179941
EnsemblGeneIds (GRCh37): ENSG00000179941
OMIM: 610148, Gene2Phenotype
BBS10 is in 20 panels
3 reviews
Ismaa Farooqi (University of Cambridge)
Variants in this GENE are reported as part of current diagnostic practice
stephen o'rahilly (university of cambridge)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Ayesha Ahmed (GEL)
Comment on list classification: Expert opinion plus literature evidenceCreated: 11 Jul 2016, 3:02 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert list
- Expert Review Green
- Emory Genetics Laboratory
- Phenotypes
-
- obesity
- Bardet-Biedl syndrome 10, OMIM:615987
- OMIM
- 610148
- Clinvar variants
- Variants in BBS10
- Penetrance
- Complete
- Panels with this gene
-
- Renal ciliopathies
- Limb disorders
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- DDG2P
- Severe early-onset obesity
- Retinal disorders
- Ductal plate malformation
- Skeletal ciliopathies
- Cystic kidney disease
- Bardet Biedl syndrome
- Structural eye disease
- Skeletal dysplasia
- Fetal anomalies
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: BBS10 were changed from obesity; Bardet-Biedl syndrome 10; Bardet-Biedl syndrome 10, 615987 to obesity; Bardet-Biedl syndrome 10, OMIM:615987
Added New Source, Set Phenotypes
Ivone Leong (Genomics England Curator)Source Expert list was added to BBS10. Added phenotypes Bardet-Biedl syndrome 10, 615987 for gene: BBS10
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)25/Oct/2016: Panel revised according to expert review and additional curation with internal discussion. Ready to be promoted to version 1.
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for BBS10 were set to Bardet-Biedl syndrome 10; obesity
Set Mode of Inheritance
Ayesha Ahmed (GEL)Mode of inheritance for BBS10 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ayesha Ahmed (GEL)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ayesha Ahmed (GEL)This gene has been classified as Green List (High Evidence).
Added New Source
Eik Haraldsdottir (Genomics England)BBS10 was added to Significant early-onset obesity +/- other endocrine features and short staturepanel. Sources: Emory Genetics Laboratory